Linked Data
ClinVar Variation Id:
1580617
ClinVar RCV Id:
RCV002085900
dbSNP Id:
rs2148364050
MyVariant Identifiers:
chrX:g.152959686C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694231C>T , CM000685.2:g.153694231C>T | GRCh38 |
| NC_000023.10:g.152959686C>T , CM000685.1:g.152959686C>T | GRCh37 |
| NC_000023.9:g.152612880C>T | NCBI36 |
| NG_012016.1:g.10935C>T | |
| NG_012016.2:g.10935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1356C>T MANE Select | ENSP00000253122.5:p.Ala452= | |
| ENST00000253122.9:c.1356C>T | ENSP00000253122.5:p.Ala452= | |
| ENST00000413787.1:c.285C>T | ENSP00000400463.1:p.Ala95= | |
| ENST00000430077.6:c.1011C>T | ENSP00000403041.2:p.Ala337= | |
| ENST00000442457.1:c.410C>T | ||
| ENST00000485324.1:n.1501C>T | ||
| NM_001142805.1:c.1326C>T | NP_001136277.1:p.Ala442= | |
| NM_001142806.1:c.1011C>T | NP_001136278.1:p.Ala337= | |
| NM_005629.3:c.1356C>T | NP_005620.1:p.Ala452= | |
| NM_005629.4:c.1356C>T MANE Select | NP_005620.1:p.Ala452= | |
| NM_001142805.2:c.1326C>T | NP_001136277.1:p.Ala442= |